Charcot-Marie-Tooth disease is a group of inherited nerve disorders that damage the peripheral nerves controlling muscles and sensation in the limbs. It affects roughly 1 in 2,500 people and usually causes slowly progressive weakness in the feet and hands, starting in childhood or early adulthood. No disease-modifying treatments exist yet, so care focuses on physical therapy, braces, and managing symptoms.
What's actually going on in research
Trials are testing gene therapies for specific CMT subtypes, drugs that boost production of the myelin coating around nerves, and treatments targeting the misfolded proteins that cause nerve damage. Researchers are also studying drugs that protect nerve fibers from dying and small molecules that correct the underlying genetic defects in certain CMT types.
Gene therapy
Several trials are testing gene therapies for CMT1A, the most common subtype. These aim to reduce overproduction of the PMP22 protein that damages nerves in this form of CMT.
Protein-targeting drugs
Drugs that help cells clear out misfolded or excess proteins are in trials for CMT1A and other subtypes. The goal is to reduce the toxic buildup that damages peripheral nerves.
Antisense therapy
Antisense oligonucleotides that block production of the PMP22 gene are being tested in CMT1A. Early trials suggest they may slow nerve damage.
What to know before you search
Eligibility usually depends on confirmed genetic diagnosis, CMT subtype, disease severity, and ability to complete functional tests like walking assessments.
What types of trials are currently open
- Gene therapy trials — Testing one-time treatments that deliver working genes or reduce harmful protein production in specific CMT subtypes, particularly CMT1A.
- Small molecule trials — Testing pills that may protect nerve fibers, improve myelin production, or help cells clear out toxic proteins.
- Antisense trials — Testing injected drugs that reduce production of the proteins causing nerve damage in CMT1A and other subtypes.
- Natural history studies — Following people with CMT over time to measure disease progression and identify which outcome measures are most sensitive to change.
- Symptom trials — Testing treatments for pain, fatigue, cramps, and other symptoms that affect daily life in CMT.
Recently added Charcot-marie-tooth Disease trials
TreatHSP Platform: Adaptive Natural History Platform for Ataxias, HSPs, and Spastic Ataxias
Ataxias, hereditary spastic paraplegias (HSP), and spastic ataxias (collectively referred to as SPAX diseases) are rare neurological conditions that cause progressive problems with walking, balance, coordination, and daily activities. Although many SPAX diseases are caused by specific genetic changes, there is still limited knowledge about how symptoms develop over time, how fast the diseases progress, and which clinical or biological measures best reflect meaningful changes for patients. The TreatHSP Master Protocol establishes an adaptive natural history study platform designed to improve the understanding of SPAX diseases across all ages and disease stages. Within this platform, the TreatHSP/SPAX study serves as the core natural history study, providing a shared framework for long-term clinical follow-up, standardized outcome assessments, and biosample collection. Participants enrolled in TreatHSP/SPAX are followed over time to document disease progression using clinical examinations, patient- and caregiver-reported outcomes, digital movement measures, imaging, and biological samples. In addition to this core dataset, the TreatHSP Platform allows optional, disease- or hypothesis-specific substudies to be added over time in selected participant groups. These additional assessments are introduced under the same master protocol, without creating separate stand-alone studies. The overall goal of the TreatHSP Master Protocol is to generate high-quality natural history data, identify sensitive and patient-relevant outcome measures, and support the development of future therapies for ataxias, hereditary spastic paraplegias, and spastic ataxias.
Try an intensive rehabilitation program with vibration therapy for better balance
Charcot-Marie-Tooth (CMT) disease is caused by a genetic abnormality involving the PMP22 gene, resulting in demyelination of the peripheral nerves. Demyelination leads to sensorimotor impairment and causes progressive muscle weakness and tendon contractures, initially affecting the lower limbs. Consequently, individuals with CMT experience balance impairments and gait disturbances, including ankle instability, foot drop, and postural instability, which lead to frequent falls and reduced quality of life. Currently, there is no disease-modifying treatment for CMT. Several rehabilitation approaches have been proposed, including endurance training and muscle strengthening programs, to improve independence in activities of daily living. However, rehabilitation practices for individuals with CMT remain poorly standardized, and there is still a lack of clearly defined rehabilitation protocols, despite broad agreement among healthcare professionals regarding their potential benefits. More recently, noninvasive focal tendon vibration has been investigated in several neurological disorders to improve sensory function, balance, and motor performance. Previous studies suggest that mechanical vibratory stimulation applied to the quadriceps tendon may induce sustained improvements in postural control and lower-limb muscle strength. The present study aims to evaluate a rehabilitation program combined with tendon vibratory stimulation. The objective is to compare the effectiveness of a short-term (2-week), intensive multidisciplinary rehabilitation program focused on balance with different types of focal tendon vibration, in order to better address balance impairments and their associated complications in individuals with Charcot-Marie-Tooth disease.
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